CASE STUDY

Published May 18, 2021

Preventative Action Reduces Clotting Risk

Blood clots have been in the news a lot recently due to a very rare but potentially serious risk associated with the AstraZeneca and Johnson & Johnson COVID-19 vaccines. But the risk of blood clots is associated with many other activities and health conditions, including smoking, long airline flights, birth control pills, diabetes, and cancer. It’s especially important to determine whether cancer patients have any additional conditions that further increase their likelihood of developing a blood clot. And that’s also why, when our cancer patient Bob* developed symptoms consistent with a blood clot, we acted immediately.

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As part of our overall strategy to comprehensively characterize any molecular variations in our cancer patients that may impact their treatment plan, we routinely perform a pharmacogenomic analysis. Pharmacogenomics sheds light on how inherited variations in genes responsible for metabolizing certain drugs are involved in key biological activities and may affect a person’s response to those drugs or susceptibility to certain conditions. When we received the results of Bob’s pharmacogenomic analysis, we immediately noted that he had a condition called Factor V Leiden. Factor V Leiden is caused by a single genetic mutation in the Factor V gene, which is an important component of the blood clotting process. The mutation that causes Factor V Leiden is present in ~5% of the Caucasian population and increases the likelihood of developing blood clots. Bob had recently started chemotherapy treatment, for which he had received a port in his upper arm. We knew that chemotherapy ports can become ‘blocked’ by blood clots, so we were already on high alert when Bob emailed us about a lump above his collar bone early on a Sunday morning, just three weeks after starting treatment.

A Fortuitous Pharmacogenomic Find

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Acting Fast

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After triaging his symptoms, our clinical team immediately suspected a complication in Bob’s chemotherapy port, a situation that can quickly become life-threatening. We directed him to the Cedars-Sinai emergency room, where we called ahead to alert the hospital of Bob’s symptoms and impending arrival. We also informed them of Bob’s Factor V Leiden status and our concern about a blood clot in his port. By the time Bob arrived at the hospital, both the Emergency Department and Bob’s treating oncologist were up to speed, and he was immediately brought back for an ultrasound, which identified extensive clotting in his port.

All within a few hours, Bob saw the Cedars-Sinai rapid response team, had a vascular surgery consultation, and was admitted to the hospital for anti-coagulation therapy. Knowing Bob’s Factor V Leiden status pointed his team towards the right diagnosis from the start and allowed him to start anti-coagulation therapy before a more dangerous complication, like a pulmonary embolism, could develop. Bob and his family continued to receive support from their Private Health Care team throughout his hospitalization, and he will be completing his chemotherapy treatment – outpatient and now on anticoagulants – later this month.


* Names changed to protect privacy

* Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.

ABOUT THE AUTHOR

Dr. Eva Gordon, PhD

Senior Vice President, Research for Private Health Management

 

Dr. Gordon has extensive experience as a medical researcher and science writer, with much of her career focusing on cancer and immunology. As a Damon Runyon-Walter Winchell Postdoctoral Fellow at Harvard Medical School, Dr. Gordon studied how viruses evade detection from the immune system.

ABOUT THE AUTHOR

Erika Sharpe, FNP-BC

Director, Clinical Services

Erika provides clinical oversight and comprehensive case management for clients with complex medical conditions. She has expertise in the management of breast, lung, and gastrointestinal cancer.